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Skeletal dysplasia v1.153 | GNPTAB | Eleanor Williams Added phenotypes Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 for gene: GNPTAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | GNPTAB | Tracy Lester reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis II alpha/beta 252500, Mucolipidosis III alpha/beta 252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | GNPTAB | Eleanor Williams reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | GNPTAB |
Eleanor Williams Source NHS GMS was added to GNPTAB. Rating Changed from Green List (high evidence) to Green List (high evidence) |